Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal.
Department of Medical Genetics, Apollo Children's Hospitals, Chennai.
Clin Dysmorphol. 2020 Jul;29(3):123-126. doi: 10.1097/MCD.0000000000000324.
15-Hydroxyprostaglandin dehydrogenase is NAD-dependent catalytic enzyme involved in prostaglandin biosynthesis pathway encoded by HPGD. The pathogenic variations in HPGD cause primary hypertrophic osteoarthropathy (PHO). The objective of the present study is to identify the genetic basis in patients with digital clubbing due to PHO. We performed detailed clinical and radiographic evaluation and exome sequencing in patients from three unrelated Indian families with PHO. Exome sequencing revealed two novel, c.34G>A (p.Gly12Ser) and c.313C>T (p.Gln105*) and a known variant, c.418G>C (p.Ala140Pro) in HPGD. Herein, we add three Indian families to HPGD mutation spectrum and review the literature on variants in this gene.
15-羟前列腺素脱氢酶是一种依赖 NAD 的催化酶，参与前列腺素生物合成途径，由 HPGD 编码。HPGD 的致病性变异导致原发性肥大性骨关节病（PHO）。本研究的目的是确定因 PHO 导致杵状指的患者的遗传基础。我们对来自三个无关联的印度家庭的 PHO 患者进行了详细的临床和影像学评估以及外显子组测序。外显子组测序显示 HPGD 中存在两个新的 c.34G>A(p.Gly12Ser)和 c.313C>T(p.Gln105*)以及一个已知的变体 c.418G>C(p.Ala140Pro)。在此，我们将三个印度家庭添加到 HPGD 突变谱中，并回顾了该基因变异的文献。
